Terms in BaseSpace Variant Interpreter

The output of a variant caller (a VCF or gVCF file) that has been input to BaseSpace Variant Interpreter.

An analysis result that has been imported into BaseSpace Variant Interpreter and annotated.

A variant association and interpretation, with supporting evidence.

Personal identifiable subject information. Do not store direct identifiers in custom fields.

A group of subjects with genetic relationships.

Nontumor samples. A variant is germline when it is present at birth, either inherited from a parent or caused by a de novo mutation, which is a mutation in the germ cell (egg or sperm).

Abbreviation of insertion or deletion. A small genetic variation (up to 50 bp) where a part of the DNA is missing, or a part of DNA is inserted into the sequence in the wrong place.

Information about the subject and sample in a case.

The subject being reported on.

A collection of related cases.

A specimen extracted from a human and used to sequence their DNA.

Tumor samples. Variants that occur during development of a subject are considered somatic. Under certain conditions, somatic variants can lead to cancer.

The human source of a DNA sample. A subject can have multiple samples.

An analysis used to identify somatic variants. The variants found in a normal sample are subtracted from the variants found in a tumor sample from the same subject.

The software and version that called the variants in an analysis result.